Results 51 to 60 of about 7,614,096 (384)

A History of the Discovery of Random X Chromosome Inactivation in the Human Female and its Significance

open access: yesRambam Maimonides Medical Journal, 2011
Genetic determinants of sex in placental mammals developed by the evolution of primordial autosomes into the male and female sex chromosomes. The Y chromosome determines maleness by the action of the gene SRY, which encodes a protein that initiates a ...
Sophia Balderman, Marshall A. Lichtman
doaj   +1 more source

Accelerating pathway evolution by increasing the gene dosage of chromosomal segments

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2018
Significance Gene duplication and divergence are cornerstones of evolution. Genetic redundancy resulting from repeated DNA provides flexibility for transient changes in copy number that may confer selective benefit under new or changing environmental ...
Melissa P. Tumen-Velasquez   +11 more
semanticscholar   +1 more source

Positive selection underlies Faster-Z evolution of gene expression in birds. [PDF]

open access: yes, 2015
The elevated rate of evolution for genes on sex chromosomes compared to autosomes (Fast-X or Fast-Z evolution) can result either from positive selection in the heterogametic sex, or from non-adaptive consequences of reduced relative effective population ...
Dean, R   +4 more
core   +1 more source

Increased Biosynthetic Gene Dosage in a Genome-Reduced Defensive Bacterial Symbiont

open access: yesmSystems, 2017
Secondary metabolites, which are small-molecule organic compounds produced by living organisms, provide or inspire drugs for many different diseases.
J. Lopera   +3 more
semanticscholar   +1 more source

Gene dosage effects of poly(A) track-engineered hypomorphs

open access: yesMolecular Therapy: Nucleic Acids, 2021
Manipulation of gene activity through creation of hypomorphic mutants has been a long-standing tool in examining gene function. Our previous studies have indicated that hypomorphic mutants could be created by inserting cis-regulatory sequences composed ...
Geralle Powell   +2 more
doaj   +1 more source

Abnormal Action Potentials Associated with the Shaker Complex Locus of Drosophila [PDF]

open access: yes, 1981
Intracellular recordings of action potentials were made from the cervical giant axon in Shaker (Sh) mutants and normal Drosophila. The mutants showed abnormally long delays in repolarization.
Ferrus, Alberto   +2 more
core   +1 more source

A general lack of compensation for gene dosage in yeast

open access: yesMolecular Systems Biology, 2010
Gene copy number variation has been discovered in humans, between related species, and in different cancer tissues, but it is unclear how much of this genomic‐level variation leads to changes in the level of protein abundance.
Michael Springer   +2 more
doaj   +1 more source

CNV and nervous system diseases - what's new? [PDF]

open access: yes, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

FOXG1 Dose in Brain Development

open access: yesFrontiers in Pediatrics, 2019
Brain development is a highly regulated process that involves the precise spatio-temporal activation of cell signaling cues. Transcription factors play an integral role in this process by relaying information from external signaling cues to the genome ...
Nuwan C. Hettige   +5 more
doaj   +1 more source

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare.
Quan-Fu Li   +6 more
doaj   +1 more source

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